| Mutation ID |
23 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000025008 |
| Start |
52657213:52657214(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2615dupA |
| AA Mutation |
p.Asn872LysfsTer2(p.N872Kfs*2) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
24 |
| Mutation Consequence |
protein_altering_variant |
| Transcription ID |
ENST00000025008 |
| Start |
52661188:52661189(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1451_1452insTAAACATACACC |
| AA Mutation |
p.Lys484delinsAsnLysHisThrPro(p.K484delinsNKHTP) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> RB1CC1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000025008 |
| Start |
52636035:52636035(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4372C>T |
| AA Mutation |
p.Arg1458Trp(p.R1458W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000025008 |
| Start |
52676487:52676487(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.454G>A |
| AA Mutation |
p.Ala152Thr(p.A152T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000025008 |
| Start |
52645716:52645716(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs774629394
|
| CDS Mutation |
c.3973A>G |
| AA Mutation |
p.Ile1325Val(p.I1325V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000025008 |
| Start |
52657359:52657359(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2470A>G |
| AA Mutation |
p.Thr824Ala(p.T824A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000025008 |
| Start |
52657733:52657733(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2096C>T |
| AA Mutation |
p.Thr699Met(p.T699M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000025008 |
| Start |
52674191:52674191(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.656G>A |
| AA Mutation |
p.Arg219Lys(p.R219K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000025008 |
| Start |
52657188:52657188(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2641C>A |
| AA Mutation |
p.Leu881Ile(p.L881I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000025008 |
| Start |
52628115:52628115(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4553A>G |
| AA Mutation |
p.Tyr1518Cys(p.Y1518C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000025008 |
| Start |
52656607:52656607(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3222A>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000025008 |
| Start |
52656535:52656535(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3294A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000025008 |
| Start |
52685458:52685458(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.12T>A |
| AA Mutation |
p.Tyr4Ter(p.Y4*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000025008 |
| Start |
52683916:52683916(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.169C>T |
| AA Mutation |
p.Arg57Ter(p.R57*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000025008 |
| Start |
52656876:52656876(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2953C>T |
| AA Mutation |
p.Gln985Ter(p.Q985*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|